Multidimensional Analysis Of Advanced-Stage Huntington's Disease From Neurocognitive And Psychofunctional Perspectives With Morphometric Correlations: Case Series

Background: Huntington's disease (HD) is a progressive neurodegenerative monogenic disorder, and its multifaceted clinical and radiological analysis correlations are not yet understood. We aim to evaluate advanced-stage HD patients for multidimensional clinical deterioration with objective scales and correlate this with morphometric-based measurements.

Materials and Methods: Ten advanced-stage HD patients evaluated with the Unified Huntington's Disease Rating Scale (UHDRS) were subjected to psychofunctional assessment for behavioral and neurocognitive decline, total functional capacity (TFC), and functional assessment scale (FAS) for functional determination. In the morphometric assessment, bicaudate ratio (BCR), bi-frontal ratio (BFR), frontal horn area (FHA), frontal horn ratio to intercaudate distance (FH/CC), and caudate volume and caudate volume ratio (CVR) were analyzed and correlated with relevant parameters.

Results: The most frequent functional decline was observed for occupational and financial ability in UHDRS TFC (5.60±2.27), social/financial engagement, and self-care impairment in the FAS (11.10±3.48). Cognitive decline was especially prevalent in quick thinking and responding to stimuli on time and to a sufficient extent. Caudate volume loss was more severe on the right-hand side (6.50±1.18) and inferior sections (21.65±7.30). A negative correlation was found between intercaudate distance and the verbal fluency test (rho=-0.775). The Parkinson's disease sleep scale and intercaudate distance were negatively correlated (rho=-0.559), and a positive correlation was found for the bi-frontal distance/caudate distance (rho=0.559). There was a negative correlation between the Questionnaire for Impulsive–Compulsive Disorders in Parkinson's Disease-Rating Scale, the Hamilton Depression Rating Scale, and the Hamilton Anxiety Rating Scale and FHD (rho=-0.671, rho=0.61 and rho=0.571, respectively).

Conclusion: In light of the current findings, caudate atrophy is an important indicator of cognito-functional disability, especially in terms of verbal ability. The right hemisphere seems to be more vulnerable to neurodegenerative processes, and mood disorders appear to be related explicitly to right frontal lobe degeneration. Psychofunctional deterioration may begin years before clinical diagnosis, so HD should be considered in the differential diagnosis of aberrant psychofunctional deterioration in young patients.